Proband information



Proband id 2214
Systematic Name c.397C>T
Protein name p.Arg133Cys
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood or skin
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 7 :Bunyan, D.::
2 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 16 :Bunyan, D.::
3 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 56 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
4 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 57 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
5 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 105 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
6 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 156 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
7 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 157 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
8 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 158 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
9 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 263 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
10 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 264 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
11 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 288 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
12 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 292 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
13 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 293 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
14 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 294 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
15 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 355 :::
16 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 377 :::
17 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 380 :::
18 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 383 :::
19 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 400 :::
20 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 411 :::
21 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 418 :::
22 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 451 :::
23 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 880 :::
24 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Preserved speech 881 :::
25 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 866 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
26 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 839 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514
27 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1030 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
28 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1175 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
29 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1176 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
30 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1219 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
31 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1224 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
32 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1280 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
33 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1281 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
34 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1282 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
35 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1283 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
36 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1284 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
37 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1285 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
38 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1395 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
39 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1438 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
40 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1439 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
41 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1440 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
42 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1504 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
43 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1505 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
44 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1610 :Bunyan, D.::
45 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1624 :Bunyan, D.::
46 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1628 :Bunyan, D.::
47 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1644 :Bunyan, D.::
48 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1675 :Friez, Michael::
49 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1704 :Friez, Michael::
50 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1708 :Friez, Michael::
51 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1712 :Friez, Michael::
52 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1719 :Friez, Michael::
53 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1725 :Friez, Michael::
54 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1743 :Friez, Michael::
55 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1767 :Friez, Michael::
56 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1770 :Friez, Michael::
57 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1806 :Friez, Michael::
58 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1813 :Friez, Michael::
59 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1816 :Friez, Michael::
60 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1869 :Bunyan, D.::
61 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-classical 1961 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
62 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Male Rett syndrome-Classical 1997 Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633
63 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 1998 Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633
64 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1999 Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633
65 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2013 :::
66 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2028 :::
67 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2038 :::
68 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2208 :Cardiff, UK::
69 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2209 :Cardiff, UK::
70 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2210 :Cardiff, UK::
71 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2211 :Cardiff, UK::
72 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2212 :Cardiff, UK::
73 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2213 :Cardiff, UK::
74 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 2214 :Cardiff, UK::
75 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2215 :Cardiff, UK::
76 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2216 :Cardiff, UK::
77 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2217 :Cardiff, UK::
78 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2218 :Cardiff, UK::
79 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2219 :Cardiff, UK::
80 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Male Rett syndrome-Atypical 2220 :Cardiff, UK::
81 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2221 :Cardiff, UK::
82 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2222 :Cardiff, UK::
83 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2223 :Cardiff, UK::
84 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2224 :Cardiff, UK::
85 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2389 Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946
86 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2399 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
87 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2411 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
88 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2430 :::
89 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2447 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
90 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2475 :::
91 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2482 :::
92 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 2491 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
93 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 2539 The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J:Annals New York Academy of Sciences: 17341617
94 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2571 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
95 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2572 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
96 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2573 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
97 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2574 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
98 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2575 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
99 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2576 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
100 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2805 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
101 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2806 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
102 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2856 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
103 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2868 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
104 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2869 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
105 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2870 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
106 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2892 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
107 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2931 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
108 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2932 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
109 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2933 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
110 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 2954 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
111 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 2955 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
112 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2995 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
113 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3097 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
114 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3098 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
115 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3099 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
116 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3100 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
117 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3101 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
118 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3102 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
119 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3103 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
120 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3104 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
121 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3105 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
122 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3106 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
123 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3107 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
124 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3108 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
125 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3109 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
126 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3110 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
127 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 3366 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
128 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3385 A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2:Nielsen JB, Ravn K, Schwartz M:Brain & Development: 11738879
129 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3393 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
130 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3394 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
131 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3427 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
132 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3428 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
133 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3429 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
134 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3430 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
135 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3529 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
136 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3530 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
137 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3531 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
138 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3532 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
139 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3533 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
140 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3534 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
141 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3535 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
142 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3634 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
143 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3635 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
144 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3636 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
145 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3637 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
146 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3638 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
147 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3639 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
148 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3640 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
149 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3641 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
150 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3642 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
151 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3643 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
152 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3644 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
153 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3790 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
154 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4062 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
155 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4117 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
156 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4118 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
157 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4119 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
158 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4120 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
159 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4121 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
160 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4248 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
161 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4314 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
162 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4359 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
163 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4360 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
164 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4361 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
165 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4429 :Das, S., Dempsey, M. U. Chicago::
166 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4430 :Das, S., Dempsey, M. U. Chicago::
167 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4431 :Das, S., Dempsey, M. U. Chicago::
168 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4432 :Das, S., Dempsey, M. U. Chicago::
169 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4433 :Das, S., Dempsey, M. U. Chicago::
170 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4434 :Das, S., Dempsey, M. U. Chicago::
171 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4435 :Das, S., Dempsey, M. U. Chicago::
172 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4436 :Das, S., Dempsey, M. U. Chicago::
173 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4732 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
174 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4733 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
175 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4734 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
176 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4735 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
177 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 4809 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873
178 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4832 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
179 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4833 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
180 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4834 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
181 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4835 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
182 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 4865 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
183 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4917 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
184 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 5045 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
185 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 5046 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
186 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 5123 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
187 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 6729 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
188 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 6727 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
189 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6728 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
190 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Rett synd. 6601 :::
191 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Male Not Rett synd. 6600 :::
192 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6563 :::
193 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6562 :::
194 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6561 :::
195 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6560 :::
196 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6559 :::
197 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6558 :::
198 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6557 :::
199 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6556 :::
200 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6555 :::
201 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6554 :::
202 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6553 :::
203 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6552 :::
204 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6551 :::
205 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6550 :::
206 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6549 :::
207 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6548 :::
208 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6547 :::
209 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6546 :::
210 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6545 :::
211 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6544 :::
212 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6543 :::
213 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6542 :::
214 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6541 :::
215 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6540 :::
216 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6539 :::
217 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6538 :::